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Prenatal growth retardation, microphthalmos/iris coloboma, cloudy cornea, urogenital anomalies and microcephaly. A possible new sublethal syndrome
Author(s) -
Fryns JeanPierre,
Verresen Herman,
Berghe Herman
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02446.x
Subject(s) - microphthalmos , microcephaly , microphthalmia , coloboma , anophthalmia , medicine , hypospadias , genitourinary system , genu valgum , renal agenesis , hearing loss , pediatrics , ophthalmology , anatomy , biology , audiology , surgery , genetics , gene , kidney
We present the findings of a “new” sublethal MCA syndrome in three siblings, one female and two boys, the only children of healthy, non‐consanguineous parents. In addition to prenatal growth retardation and early demise, they presented the same pattern of multiple malformations: relative microcephaly with bird‐headed face, microphthalmos/coloboma iris/cloudy corneae, genital anomalies with hypospadias and cryptorchidism in the two males. Associated anomalies included: cardiac defects (2/3), unilateral cleft lip/cleft palate (1/3), anal stenosis (2/3) and unilateral renal agenesis (1/3).